Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novomutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy
Histiocytoid cardiomyopathy (Histiocytoid CM) is a rare form of cardiomyopathy observed predominantly in newborn females that is fatal unless treated early in life. We have performed whole exome sequencing on five parent-proband trios and identified nuclear-encoded mitochondrial protein mutations in...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
| Published: |
Wiley
2015
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